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  • 1
    Electronic Resource
    Electronic Resource
    Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period (1997)
    Springer
    Journal of neurology 244 (1997), S. 657-663 
    Details
    ISSN: 1432-1459
    Keywords: Key words Becker muscular ; dystrophy ; Cardiomyopathy ; Dystrophinopathy ; Cross-sectional ; study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We evaluated the course of cardiac involvement in 27 previously reported patients with Becker muscular dystrophy (BMD) originating from nine kindreds. Since almost all affected individuals of each kindred were included, intrafamilial variability could be studied. We also attempted to identify associations between cardiac involvement, functional ability and mutations at DNA level. The mean follow-up period was 12.5 years. The number of patients with electrocardiographic abnormalities progressed from 44% to 71%. Dilated cardiomyopathy (DCM) with or without congestive heart failure was now present in 33% as compared with 15% in the previous study. In addition, 22% developed borderline echocardiographic abnormalities. Six patients (22%) became symptomatic and four patients died of congestive heart failure. In all families cardiac abnormalities were found. There was no association between DCM and mutation type. Despite equal functional motor ability, there was a considerable intrafamilial variation in cardiac involvement, even in brother pairs. We conclude that cardiac abnormalities are the rule and not the exception in BMD and are progressive over time. Left ventricular dilatation may begin at any moment in the course of BMD and the rate of progression is unpredictable. A substantial proportion of patients will develop an incapacitating and life-threatening DCM.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050163
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  • 2
    Electronic Resource
    Electronic Resource
    Somatic expansion of the (CAG) n repeat in Huntington disease brains (1995)
    Springer
    Human genetics 〈Berlin〉 95 (1995), S. 270-274 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The mutation causing Huntington disease (HD) has been identified as an expansion of a polymorphic (CAG) n repeat in the 5′ part of the huntingtin gene. The specific neuropathology of HD, viz. selective neuronal loss in the caudate nucleus and putamen, cannot be explained by the widespread expression of the gene. Since somatic expansion is observed in affected tissue in myotonic dystrophy, we have studied the length of the (CAG) n repeat in various regions of the brain. Although we have not found clear differences when comparing severely and mildly affected regions, we have observed a minor increase in repeat length upon comparison of affected brain samples with cerebellum or peripheral blood. Hence, although further somatic amplification seems to occur in affected areas of the brain, the differences between affected and unaffected regions are too small to make this mechanism an obvious candidate for the cause of differential neuronal degeneration in HD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00225192
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  • 3
    Electronic Resource
    Electronic Resource
    A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 589-591 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The critical region containing the spinal muscular atrophy (SMA) gene is flanked by the 5q11–q13 markers, D5S435 and D5S557, as determined by linkage analysis. Here we present the results of an analysis of a Dutch SMA family with the multicopy microsatellite marker CMS1. A crossover is revealed in the critical SMA region. We conclude that at least one of the CMS1 subloci maps proximal to the SMA gene. This reduces the minimal SMA region from approximately 1.4 Mb to 600–700 kb.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197416
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  • 4
    Electronic Resource
    Electronic Resource
    A polymorphic STS in intron 44 of the dystrophin gene (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 479-480 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A 300-bp EcoRV polymorphism, detected with P20 (DXS269) in intron 44 of the human dystrophin gene, is due to an insertion or deletion. To make this restriction fragment length polymorphism (RFLP) available for polymerase chain reaction (PCR) analysis, we sequenced both alleles of this polymorphism and synthesized primers flanking the mutation site. The origin of the mutation is a single Alu repeat insertion. The 300-bp polymorphism can now be successfully detected by PCR and provides an excellent tool to detect female carriers in this deletion prone region of the dystrophin gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201683
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  • 5
    Electronic Resource
    Electronic Resource
    Human genetics in health care (2000)
    Springer
    European journal of pediatrics 159 (2000), S. S170 
    Details
    ISSN: 1432-1076
    Keywords: Key words Data mining ; Gene patenting ; Genome sequencing ; Human Genome Project ; Pharmacogenomics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Human Genome Project, the mapping of our 100,000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The tracing of genetic diseases to their molecular causes is rapidly expanding diagnostic and preventive options, while the increased insights into molecular pathways open tremendous perspectives for pharmacological and genetic therapies. The design of animal model systems for the functional study of disease and development and the use of bioinformatics and biostatistics to improve our pattern recognition abilities are greatly accelerating progress. However, the optimal value from the current explosion of `data mining' possibilities will only be gained when the basic data are made and kept publicly accessible, while at the same time safeguarding the protection of intellectual property arising from downstream inventions. This is one of the goals of the international Human Genome Organisation, established 10 years ago to assist coordinating data acquisition and exchange and societal implementation of the genome project. Additional points of major attention in this historic endeavour are the safeguarding of a worldwide balance in the contribution and benefits to countries and populations, the prevention of stigmatisation and discrimination of individuals and groups and the maintenance of respect for the diversity of our world's cultures and traditions. Conclusion The acquisition and use of genomic information for health care benefit should be seen in the light of a worldwide improvement without prejudice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00014397
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  • 6
    Electronic Resource
    Electronic Resource
    Making ends meet (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 7 (1994), S. 347-348 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] On page 376 of this issue of Nature Genetics, Craig and Bickmore1 take a large step towards the quest of elucidating the functional relationship between chromosome bands and gene distribution. From the earliest days of chromosome banding, cytogeneticists and later molecular geneticists have been in ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0794-347
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  • 7
    Electronic Resource
    Electronic Resource
    Rapid detection of BRCA1 mutations by the protein truncation test (1995)
    [s.l.] : Nature Publishing Group
    Nature genetics 10 (1995), S. 208-212 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] More than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PIT) to screen for mutations in exon 11, which encodes 61 % of BRCA1. In 45 patients from breast and/or ovarian cancer families we ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0695-208
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  • 8
    Electronic Resource
    Electronic Resource
    Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 301-305 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Chromosomal DNA prepared from 90 unrelated individuals, mainly of Caucasian origin, was screened for restriction fragment length polymorphisms in the 3′ 220 kilobase pairs (kb) of the human thyroglobulin (Tg) gene. The probes used were Tg cDNA fragments and subcloned single-copy genomic segments, isolated from a human cosmid library. All in all, 1164 nucleotides were screened using 15 different restriction enzymes. The average number of nucleotides screened was 354 per individual. Only one polymorphism was found in these 1164 nucleotides, with a minor allele frequency of 2.2%. This polymorphism, which is located in an intervening sequence, was found in healthy individuals and in a family with hereditary congenital hypothyroidism due to a defect in the synthesis and structure of thyroglobulin. The Mendelian segregation of polymorphism and goiter in ten family members suggests that the rare variant is linked to a normal Tg allele and provides strong evidence for autosomal dominant inheritance of this Tg synthesis defect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00291357
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  • 9
    Electronic Resource
    Electronic Resource
    Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP (1995)
    [s.l.] : Nature Publishing Group
    Nature 376 (1995), S. 348-351 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The chromosomal region around the RTS translocation breakpoints and microdeletions was cloned by isolating a set of overlapping cosmids. We were able to situate all RTS breakpoints in an area of 150 kilobases (kb) using fluorescence in situ hybridization (FISH) (Fig. \a). The microdeletions ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/376348a0
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  • 10
    Electronic Resource
    Electronic Resource
    Frequency of new copy number variation in humans (2005)
    [s.l.] : Nature Publishing Group
    Nature genetics 37 (2005), S. 333-334 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] To the editor: Three recently published papers have extended the concept of genome plasticity from seemingly fixed human segmental duplications to interindividual, large-segment copy-number polymorphism, on a larger scale than conceived thus far. The finding of several hundred of these copy-number ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng0405-333
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